Early Detection of Ovarian Cancer Using Plasma Cell-free DNA Fragmentomics (Retrospective Study)

Sponsor

Sun Yat-Sen Memorial Hospital of Sun Yat-Sen University (Other)

Overall Status

Active, not recruiting

CT.gov ID

NCT05693974

Collaborator

Nanjing Geneseeq Technology Inc. (Industry)

130

Enrollment

Location

Anticipated Duration (Months)

21.7

Patients Per Site Per Month

Study Details

Study Description

Brief Summary

The purpose of this study is to enable non-invasive early detection of ovarian cancer in high-risk populations through the establishment of a multimodal machine learning model using plasma cell-free DNA fragmentomics. Plasma cell-free DNA from early stage ovarian cancer patients and healthy individuals will be subjected to whole-genome sequencing. Five diferent feature types, including Fragment Size Coverage (FSC), Fragment Size Distribution (FSD), EnD Motif (EDM), BreakPoint Motif (BPM), and Copy Number Variation (CNV) will be assessed to generate this model.

Condition or Disease	Intervention/Treatment	Phase
Ovarian Cancer

Detailed Description

At present, there are many problems in the detection of ovarian cancer in China, such as a large number of high-risk population, lack of effective screening and management methods, and the value of vaginal ultrasound and CA125 in early screening of ovarian cancer is limited. There is an urgent need for a more sensitive screening method for ovarian cancer in clinical practice. In a more advanced window period, a group with higher risk of disease will be screened to enter clinical diagnosis, so as to achieve early prevention and treatment of early patients and win valuable opportunities for effective prevention and treatment of ovarian cancer. Although there are some studies on early screening data of ovarian cancer at home and abroad, most of them use single detection dimension or somatic mutation combined with methylation analysis. At present, the optimization of detection technology, sample accumulation or validation of prospective clinical trials are still under way. In short, the space for early screening of ovarian cancer is vast, and liquid biopsy is non-invasive, convenient and easy to accept. It is an important technical means for early screening research of ovarian cancer, and has great potential to improve the performance of early screening of ovarian cancer. In order to further verify the application value of cfDNA-based fragmentomics in early screening of ovarian cancer and better screen the high-risk population of ovarian cancer in China, this study intends to analyze the characteristics of five cfDNA fragments based on low-depth whole-genome sequencing technology (WGS), and integrate artificial intelligence machine learning technology to establish a prediction model for early screening of ovarian cancer based on cfDNA.

Study Design

Study Type:

Observational

Actual Enrollment :

130 participants

Observational Model:

Case-Control

Time Perspective:

Retrospective

Official Title:

A Retrospective Study of Early Detection of Ovarian Cancer Using Plasma Cell-free DNA Fragmentomics

Actual Study Start Date :

Oct 1, 2022

Anticipated Primary Completion Date :

Jan 31, 2023

Anticipated Study Completion Date :

Apr 1, 2023

Arms and Interventions

Arm	Intervention/Treatment
stage I-II ovarian cancer 30 patients with stage I-II ovarian cancer
stage III-IV ovarian cancer 30 patients with stage III-IV ovarian cancer
benign ovarian cancer 40 patients with benign ovarian cancer
healthy people 30 healthy people

Outcome Measures

Primary Outcome Measures

Area under curve of the model for detecting ovarian cancer [1 year]
The area under curve of the model for the ultrasensitive early detection of ovarian cancer would be evaluate

Secondary Outcome Measures

Sensitivity of the early detection model [1 year]
The sensitivity of the model for the ultrasensitive early detection of ovarian cancer would be evaluate
Specificity of the early detection model [1 year]
The specificity of the model for the ultrasensitive early detection of ovarian cancer would be evaluate

Eligibility Criteria

Criteria

Ages Eligible for Study:

18 Years and Older

Sexes Eligible for Study:

Female

Accepts Healthy Volunteers:

Yes

Inclusion Criteria:

Age minimum 18 years
Patients with I-IV ovarian cancer or benign tumor confirmed by pathological examination.
Ability to understand and the willingness to sign a written informed consent document
Non-cancer controls are sex- and age-matched individuals without presence of any tumors or nodules or any other severe chronic diseases through systematic screening

Exclusion Criteria:

Participants must not be pregnant or breastfeeding
Participants must not have prior cancer histories or a second non-ovarian malignancy
Participants must not have had any form of cancer treatment before enrollment or plasma collection, including surgery, chemotherapy, radiotherapy, targeted therapy and immunotherapy
Participants must not present medical conditions of fever or have acute or immunological diseases that required treatment 14 days before plasma collection
Participants who underwent organ transplant or allogenic bone marrow or hematopoietic stem cell transplantation
Participants with clinically important abnormalities or conditions unsuitable for blood collection
Any other disease or clinical condition of participants that the researcher believes may affect the compliance of the protocol, or affect the patient's signing of the informed consent form (ICF), which is not suitable to participate in this clinical trial.